Variant report

Variant	nsv518582
Chromosome Location	chr10:4328928-4336606
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:4324123..4326920-chr10:4330780..4332390,2	K562	blood:
2	chr10:4322899..4325604-chr10:4329174..4330972,3	MCF-7	breast:
3	chr10:4326364..4328633-chr10:4329094..4331140,3	MCF-7	breast:

Extended variants
information (count: 353 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:353 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs882601	chr10:4328928-4328929	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190674783	chr10:4328935-4328936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368892575	chr10:4328949-4328950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565290696	chr10:4328950-4328951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182301069	chr10:4328960-4328961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6601830	chr10:4329008-4329009	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs570069442	chr10:4329034-4329035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs80243067	chr10:4329068-4329069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377184882	chr10:4329071-4329072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12253791	chr10:4329073-4329074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552618448	chr10:4329077-4329078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116087063	chr10:4329083-4329084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74861353	chr10:4329095-4329096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35254146	chr10:4329096-4329097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79841901	chr10:4329099-4329100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574004453	chr10:4329120-4329121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11252442	chr10:4329128-4329129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11252443	chr10:4329130-4329131	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs187380075	chr10:4329131-4329132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557270448	chr10:4329152-4329153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569895192	chr10:4329175-4329176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189288282	chr10:4329196-4329197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138660812	chr10:4329219-4329220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11252444	chr10:4329239-4329240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573245081	chr10:4329288-4329289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542798365	chr10:4329289-4329290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs180788834	chr10:4329292-4329293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562148458	chr10:4329350-4329351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs117438370	chr10:4329378-4329379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142771731	chr10:4329381-4329382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10904222	chr10:4329440-4329441	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs79931404	chr10:4329444-4329445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552024576	chr10:4329455-4329456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147380397	chr10:4329456-4329457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185540139	chr10:4329462-4329463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs578041647	chr10:4329517-4329518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs137957388	chr10:4329525-4329526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs199799177	chr10:4329533-4329534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs7078030	chr10:4329536-4329537	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs190007907	chr10:4329563-4329564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556888135	chr10:4329646-4329647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs374889079	chr10:4329666-4329667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575350655	chr10:4329677-4329678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs118081118	chr10:4329708-4329709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558049521	chr10:4329785-4329786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573308268	chr10:4329808-4329809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368505803	chr10:4329822-4329823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554184417	chr10:4329823-4329824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574170615	chr10:4329944-4329945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs149515473	chr10:4329973-4329974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4323400-4331000	Weak transcription	Lung	lung
2	chr10:4325000-4329800	Weak transcription	Left Ventricle	heart
3	chr10:4326400-4329800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr10:4326600-4330000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr10:4327000-4329400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr10:4327000-4331000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr10:4327000-4334600	Weak transcription	Right Atrium	heart
8	chr10:4327200-4329800	Weak transcription	Adipose Nuclei	Adipose
9	chr10:4327600-4333200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr10:4327800-4329800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr10:4327800-4334200	Weak transcription	NHDF-Ad	bronchial
12	chr10:4328800-4329000	Enhancers	Brain Germinal Matrix	brain
13	chr10:4328800-4329000	Enhancers	Fetal Muscle Trunk	muscle
14	chr10:4328800-4329400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr10:4329400-4331200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr10:4329400-4333000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr10:4329800-4330000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr10:4329800-4330200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr10:4329800-4330400	Enhancers	Spleen	Spleen
20	chr10:4329800-4331200	Enhancers	Left Ventricle	heart
21	chr10:4330000-4330200	Enhancers	Pancreas	Pancrea
22	chr10:4330000-4331000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr10:4330200-4330400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr10:4330200-4331000	Weak transcription	Pancreas	Pancrea
25	chr10:4330400-4331200	Enhancers	Brain Germinal Matrix	brain
26	chr10:4330800-4331200	Enhancers	Spleen	Spleen
27	chr10:4331000-4331200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr10:4331000-4331200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr10:4331000-4331200	Enhancers	Lung	lung
30	chr10:4331000-4331200	Enhancers	Pancreas	Pancrea
31	chr10:4331200-4333400	Enhancers	Fetal Brain Male	brain
32	chr10:4331200-4338200	Weak transcription	Brain Germinal Matrix	brain
33	chr10:4332200-4332400	Enhancers	Fetal Brain Female	brain
34	chr10:4332800-4334200	Weak transcription	Fetal Brain Female	brain
35	chr10:4333000-4333200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr10:4333200-4334800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr10:4333400-4334400	Weak transcription	Fetal Brain Male	brain
38	chr10:4333800-4334400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr10:4334200-4334400	Weak transcription	Aorta	Aorta
40	chr10:4334200-4334600	Enhancers	Fetal Brain Female	brain
41	chr10:4334200-4334800	Enhancers	NHDF-Ad	bronchial
42	chr10:4334200-4335000	Enhancers	Fetal Muscle Leg	muscle
43	chr10:4334400-4334600	Enhancers	Fetal Brain Male	brain
44	chr10:4334400-4334800	Enhancers	Aorta	Aorta
45	chr10:4334400-4334800	Enhancers	Fetal Lung	lung
46	chr10:4334600-4334800	Enhancers	Right Atrium	heart
47	chr10:4334600-4336800	Weak transcription	Fetal Brain Male	brain
48	chr10:4334600-4337400	Weak transcription	Fetal Brain Female	brain
49	chr10:4334800-4336000	Weak transcription	NHDF-Ad	bronchial
50	chr10:4334800-4339400	Weak transcription	Aorta	Aorta

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